Engin Deniz
Overview
Explore the profile of Engin Deniz including associated specialties, affiliations and a list of published articles.
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Articles
26
Citations
194
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0
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Recent Articles
1.
DeSpenza Jr T, Kiziltug E, Allington G, Barson D, McGee S, OConnor D, et al.
Nat Neurosci
. 2025 Feb;
28(3):536-557.
PMID: 39994410
Enlargement of the cerebrospinal fluid (CSF)-filled brain ventricles (ventriculomegaly) is a defining feature of congenital hydrocephalus (CH) and an under-recognized concomitant of autism. Here, we show that de novo mutations...
2.
Marquez J, Viviano S, Beckman E, Thies J, Friedland-Little J, Lam C, et al.
HGG Adv
. 2025 Feb;
6(2):100418.
PMID: 39967265
Most of the chemical energy that organisms rely on to support cellular function is generated through oxidative phosphorylation, a metabolic pathway in which electron donors NADH and FADH are oxidized...
3.
Kim A, Sakin I, Viviano S, Tuncel G, Aguilera S, Goles G, et al.
Life Sci Alliance
. 2024 Aug;
7(10).
PMID: 39168639
Intellectual and developmental disabilities result from abnormal nervous system development. Over a 1,000 genes have been associated with intellectual and developmental disabilities, driving continued efforts toward dissecting variant functionality to...
4.
DeSpenza Jr T, Singh A, Allington G, Zhao S, Lee J, Kiziltug E, et al.
Proc Natl Acad Sci U S A
. 2024 Jun;
121(27):e2314702121.
PMID: 38916997
Enlargement of the cerebrospinal fluid (CSF)-filled brain ventricles (cerebral ventriculomegaly), the cardinal feature of congenital hydrocephalus (CH), is increasingly recognized among patients with autism spectrum disorders (ASD). a member of...
5.
Mishra-Gorur K, Barak T, Kaulen L, Henegariu O, Jin S, Aguilera S, et al.
Proc Natl Acad Sci U S A
. 2024 Mar;
121(12):e2319578121.
PMID: 38466853
No abstract available.
6.
Singh A, Allington G, Viviano S, McGee S, Kiziltug E, Ma S, et al.
Brain
. 2023 Dec;
147(4):1553-1570.
PMID: 38128548
Hydrocephalus, characterized by cerebral ventriculomegaly, is the most common disorder requiring brain surgery in children. Recent studies have implicated SMARCC1, a component of the BRG1-associated factor (BAF) chromatin remodelling complex,...
7.
Mishra-Gorur K, Barak T, Kaulen L, Henegariu O, Jin S, Aguilera S, et al.
Proc Natl Acad Sci U S A
. 2023 Apr;
120(16):e2214997120.
PMID: 37043537
While somatic variants of (Tumor necrosis factor receptor-associated factor 7) underlie anterior skull-base meningiomas, here we report the inherited mutations of that cause congenital heart defects. We show that TRAF7...
8.
A novel -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus
Singh A, Viviano S, Allington G, McGee S, Kiziltug E, Mekbib K, et al.
medRxiv
. 2023 Mar;
PMID: 36993720
Importance: Hydrocephalus, characterized by cerebral ventriculomegaly, is the most common disorder requiring brain surgery. A few familial forms of congenital hydrocephalus (CH) have been identified, but the cause of most...
9.
Al-Ali S, Jeffries L, Faustino E, Ji W, Mis E, Konstantino M, et al.
Am J Med Genet A
. 2022 Jul;
188(10):2869-2878.
PMID: 35899841
The Pediatric Genomics Discovery Program (PGDP) at Yale uses next-generation sequencing (NGS) and translational research to evaluate complex patients with a wide range of phenotypes suspected to have rare genetic...
10.
Duy P, Weise S, Marini C, Li X, Liang D, Dahl P, et al.
Nat Neurosci
. 2022 Apr;
25(4):458-473.
PMID: 35379995
Hydrocephalus, characterized by cerebral ventricular dilatation, is routinely attributed to primary defects in cerebrospinal fluid (CSF) homeostasis. This fosters CSF shunting as the leading reason for brain surgery in children...